Fujimoto A, Towner J W, Turkel S B, Wilson M G
Hum Genet. 1978 Feb 16;40(3):241-8. doi: 10.1007/BF00272184.
A pericentric inversion of chromosome 8, inv(8)(p23q22), in a male carrier resulted in an unbalanced recombinant, rec(8)dup q, inv(8)(p23q22), which was diagnosed prenatally. The features seen in the aborted fetus resembled the features seen in a previously affected child who received the identical recombinant from her carrier mother. In this particular inversion involving chromosome 8, both male and female carriers risk producing an unbalanced progeny. Different familial pericentric inversions are reviewed for the presence or absence of unbalanced recombinants.
一名男性携带者发生了8号染色体的臂间倒位,即inv(8)(p23q22),导致了一种不平衡的重组体rec(8)dup q,inv(8)(p23q22),该重组体在产前被诊断出来。流产胎儿所表现出的特征与一名先前受影响儿童相似,该儿童从其携带者母亲那里遗传了相同的重组体。在这种涉及8号染色体的特定倒位中,男性和女性携带者都有产生不平衡后代的风险。本文回顾了不同家族性臂间倒位中不平衡重组体的有无情况。